Previous studies report a potential susceptibility region at the chromosomal locus 2q including SCN1A, SCN2A and SCN3A genes for autism spectrum disorder (ASD).
Although the involvement of the SCN1A and SCN2A genes encoding Na<sub>V</sub>1.1 and Na<sub>V</sub>1.2 channels in de novo ASD has previously been demonstrated, our study indicates the involvement of inherited SCN9A variants and partial loss-of-function of Na<sub>V</sub>1.7 channels in the etiology of rare familial ASD.
Here we describe a child with intractable myoclonic epilepsy and autism spectrum disorder who carries an inherited mutation in SCN1A (c.3521C>G, p.T1174S).